Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Chromosome 11, Partial Trisomy 11q | | ISO | RGD:1345886 | 8554872 | ClinVar Annotator: match by term: Distal trisomy 11q | ClinVar | PMID:25741868 | coloboma | | ISO | RGD:1345886 | 8554872 | ClinVar Annotator: match by term: Congenital ocular coloboma | ClinVar | | Dwarfism | | ISO | RGD:1345886 | 8554872 | ClinVar Annotator: match by term: Short stature | ClinVar | PMID:32581362 | genetic disease | | ISO | RGD:1345886 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | holoprosencephaly | | ISO | RGD:1345886 | 8554872 | ClinVar Annotator: match by term: Holoprosencephaly sequence | ClinVar | | holoprosencephaly 1 | | ISO | RGD:1345886 | 8554872 | ClinVar Annotator: match by term: Holoprosencephaly 1 | ClinVar | PMID:25741868, PMID:28492532 | holoprosencephaly 11 | | ISO | RGD:1345886 | 8554872 | ClinVar Annotator: match by term: Holoprosencephaly 11 | ClinVar | PMID:17576681 more ... | Jacobsen Syndrome | | ISO | RGD:1345886 | 8554872 | ClinVar Annotator: match by term: Paris-Trousseau thrombocytopenia | ClinVar | PMID:32581362 | microcephaly | | ISO | RGD:1345886 | 8554872 | ClinVar Annotator: match by term: Microcephaly | ClinVar | PMID:25741868 | Pituitary Stalk Interruption Syndrome | | ISO | RGD:1345886 | 8554872 | ClinVar Annotator: match by term: Pituitary stalk interruption syndrome | ClinVar | PMID:25741868, PMID:26529631 | Precocious Puberty | | ISO | RGD:1345886 | 8554872 | ClinVar Annotator: match by term: Peripheral precocious puberty | ClinVar | | schizophrenia | | ISO | RGD:1345886 | 8554872 | ClinVar Annotator: match by term: Schizophrenia | ClinVar | PMID:21681106, PMID:30208311 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
 |
Welcome {{ username}}
Message Center
{{ messageCount }} Messages
Watched Genes
{{$index + 1}}. {{ watchedObject.symbol }} (RGD ID:{{watchedObject.rgdId}})
Watched Ontology Terms
{{gene.symbol}}: {{ gene.description }}
|
| Save what matters to you |
| {{ loginError }} |
| Sign in with your RGD account |
| Create New Account | Recover Password |
Analyze GeneStrainQTL List |
 Gene Annotator (Functional Annotation) unavailable |
 Gene Annotator (Annotation Distribution) unavailable |
 Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable |
Gene Annotator (Functional Annotation) |
Gene Annotator (Annotation Distribution) |
Variant Visualizer (Genomic Variants) |
 InterViewer (Protein-Protein Interactions) unavailable |
 Gviewer (Genome Viewer) unavailable |
 Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable |
InterViewer (Protein-Protein Interactions) |
GViewer (Genome Viewer) |
Variant Visualizer (Damaging Variants) |
 Gene Annotator (Annotation Comparison) unavailable |
 OLGA (Gene List Generator) unavailable |
 |
Gene Annotator (Annotation Comparison) |
OLGA (Gene List Generator) |
Excel (Download) |
 MOET (Multi-Ontology Enrichement) unavailable |
 GOLF (Gene-Ortholog Location Finder) unavailable |
|
MOET (Multi-Ontology Enrichement) |
GOLF (Gene-Ortholog Location Finder) |
|
||||||||
Imported Disease Annotations - CTD
Imported Disease Annotations - OMIM
Gene-Chemical Interaction Annotations Click to see Annotation Detail View
Gene Ontology Annotations Click to see Annotation Detail View
Biological Process
Cellular Component
Molecular Function
Molecular Pathway Annotations Click to see Annotation Detail View
RGD Manual Annotations
Imported Annotations - PID (archival)
Disease Annotations
Click to see Annotation Detail View
|
|
|
Gene-Chemical Interaction Annotations
Click to see Annotation Detail View
Gene Ontology Annotations
Click to see Annotation Detail View
Biological Process
|
|
|
References
References - curated
| 1. | Bae GU, etal., Am J Hum Genet. 2011 Aug 12;89(2):231-40. doi: 10.1016/j.ajhg.2011.07.001. Epub 2011 Jul 28. |
| 2. | Bae GU, etal., Mol Cell Biol. 2009 Aug;29(15):4130-43. doi: 10.1128/MCB.00199-09. Epub 2009 May 26. |
| 3. | Beachy PA, etal., Genes Dev. 2010 Sep 15;24(18):2001-12. |
| 4. | Cuadrado A and Nebreda AR, Biochem J. 2010 Aug 1;429(3):403-17. doi: 10.1042/BJ20100323. |
| 5. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
| 6. | Kahn BM, etal., Dis Model Mech. 2017 Jan 1;10(1):29-37. doi: 10.1242/dmm.026195. Epub 2016 Nov 24. |
| 7. | Kang JS, etal., J Cell Biol 1997 Jul 14;138(1):203-13. |
| 8. | MGD data from the GO Consortium |
| 9. | OMIM Disease Annotation Pipeline |
| 10. | Pipeline to import Pathway Interaction Database annotations from NCI into RGD |
| 11. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 12. | RGD automated import pipeline for gene-chemical interactions |
| 13. | RGD comprehensive gene curation |
| 14. | Sun M, etal., J Med Genet. 2008 Sep;45(9):589-95. doi: 10.1136/jmg.2008.057646. Epub 2008 Apr 16. |
| 15. | Zhang W, etal., Dev Cell. 2006 May;10(5):657-65. Epub 2006 Apr 27. |
Additional References at PubMed
| PMID:15520228 | PMID:15572127 | PMID:16647304 | PMID:16648472 | PMID:17504941 | PMID:19244314 | PMID:19754878 | PMID:20160094 |
Genomics
